Varaico: Literature-Extracted Genetic Variants

NOS1

434 papers

RefSeq Summary

The protein encoded by this gene belongs to the family of nitric oxide synthases, which synthesize nitric oxide from L-arginine. Nitric oxide is a reactive free radical, which acts as a biologic media...

Pfam Domains

PDZaa 17–96UCSCPDZ domain

NO_synthaseaa 355–717UCSCNitric oxide synthase, oxygenase domain

Flavodoxin_1aa 762–935UCSCFlavodoxin

Gene Aliases

HGNC Name

nitric oxide synthase 1

HGNC Alias Symbol

nNOS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000620.5

p.S771L

c.2312C>T

Surrounding Variants

1 paper

NM_000620.5

p.K776N

c.2328G>T

1 paper

NM_000620.5

p.K776N

c.2328G>C

1 paper

NM_000620.5

p.Y764*

c.2292T>G

1 paper

NM_000620.5

p.Y764S

c.2291A>C

1 paper

NM_000620.5

p.A760A

c.2280G>A

1 paper

NM_000620.5

p.R757G

c.2269A>G

1 paper

NM_000620.5

p.A788P

c.2362G>C

1 paper

NM_000620.5

p.A753D

c.2258C>A

1 paper

NM_000620.5

p.A753fs

c.2257_2258fs

1 paper

NM_000620.5

p.G751E

c.2252G>A

1 paper

NM_000620.5

p.Y796S

c.2387A>C

1 paper

NM_000620.5

p.E804K

c.2410G>A